Living with Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
A rare inherited condition with muscle weakness, nerve problems, a hoarse voice, and hearing loss.
Understanding Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
It combines muscle weakness, nerve and muscle problems, a hoarse voice, and hearing loss from the inner ear (sensorineural). GARD says the age of onset and severity vary widely, even within the same family. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss in both ears
- Hoarse voice
- Weakness in the lower legs and feet
- Nerve problems (peripheral neuropathy)
- Muscle disease (myopathy)
- Foot differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in MYH14 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MYH14 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: peripheral neuropathy-myopathy-hoarseness-deafness syndrome; pnmhh
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome.
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